Breaking the Mold: How Patient Groups like FAST are Reshaping Drug Development in Rare Disease

Quick Overview

In his keynote speech at the 2022 FAST Science Summit, Craig Martin, CEO of Global Genes, discussed how patient groups like FAST are reshaping drug development in rare diseases. He highlighted the challenges and opportunities in rare disease drug development, emphasizing the need for new models and approaches. Martin discussed the importance of prevalence in determining investment and market size for drug development. He also highlighted the significant progress in scientific advancements in rare diseases, such as gene therapy and RNA therapeutics. Martin praised FAST for its multiplex approach to drug development, involving multiple modalities and targeting different aspects of the disease. He also mentioned the success of FAST in partnering with industry and securing funding for their programs. Martin concluded by emphasizing the importance of collaboration and sharing experiences among patient groups to drive progress in rare disease drug development.

Introduction

I am honored to be the keynote speaker at the 2022 FAST Science Summit. Today, I will be discussing how patient groups like FAST are reshaping drug development in rare diseases. As the CEO of Global Genes, I have been working extensively in the field of precision medicine with a focus on rare diseases. I believe that patient groups play a crucial role in driving progress in drug development and addressing the unmet needs of rare disease communities.

The Role of Global Genes

Global Genes is a non-profit organization that represents the entire rare disease community. We have close to 400 disease groups as members from 28 countries and 100 different organizations in our corporate alliance. Our focus is on enabling and empowering individual caregivers, patients, and rare disease organizations to drive progress in their respective disease areas. We believe in capacity building and supporting the next generation of advocates in rare disease.

The Challenges in Rare Disease Drug Development

Rare diseases present unique challenges in drug development. These conditions are often difficult to diagnose and treat due to their low prevalence and limited understanding. In the past, drug development was primarily driven by industry and researchers, with patient groups playing a more passive role. However, in recent years, patient groups like FAST have become central partners in the drug development process, driving change and innovation.

The Four P’s of Drug Development

In my talk, I will focus on what I call the four P’s of drug development: prevalence, progress, pathways, and partnerships. These factors are influential in determining the success and impact of drug development efforts in rare diseases.

Prevalence

Prevalence refers to how common a disease is in the community. In rare diseases, determining prevalence can be challenging, but it is crucial for drug development. Investors and companies often make decisions based on market size and the number of patients who could potentially benefit from a treatment. Higher prevalence conditions may attract more investment due to the larger market, while lower prevalence conditions may have a higher unmet need and potential for a sustainable commercial model.

Progress

Despite the promising advancements in rare disease science, the gap between the number of conditions and the number of approved therapies continues to widen. Less than 5% of rare diseases have an approved therapy, and the number of rare diseases is estimated to be over 11,000. To close this gap, new models and approaches to drug development are needed.

Pathways

There are multiple pathways that patient groups can choose to drive progress in their disease areas. These include traditional research funding, venture philanthropy, drug repurposing, and company creation. Each pathway has its advantages and challenges, and patient groups must carefully consider their resources and goals when choosing a model.

Partnerships

Collaborative partnerships with industry and researchers are crucial for successful drug development in rare diseases. Patient groups like FAST have shown the importance of engaging with partners early in the process and becoming equal partners in the development of treatments. These partnerships provide access to resources, expertise, and funding, increasing the chances of success.

Examples of Successful Models

I will highlight two examples of successful models in rare disease drug development: the “all-in” model and the “multiplex” model.

The “All-In” Model: #CureSPG50

The #CureSPG50 initiative is an example of a patient-driven effort in a small prevalence condition area. Terry Pirovolakis, whose son was diagnosed with spastic paraplegia type 50 (SPG50), took it upon himself to raise funds and drive progress in finding a treatment. Despite the challenges of an ultra-rare condition and limited resources, Terry successfully raised $2 million and advanced a gene therapy candidate. Within three years, his son received the treatment, and a clinical trial for other children with SPG50 is now underway.

The “Multiplex” Model: FAST

FAST, the Foundation for Angelman Syndrome Therapeutics, has taken a multiplex approach to drug development. They have invested in multiple modalities, including gene therapy, antisense oligonucleotides (ASOs), and enzyme replacement therapy, targeting different aspects of Angelman syndrome. By building partnerships and creating a nimble model, FAST has been able to advance multiple programs and attract the attention of industry. Their recent partnership with Ultragenyx, resulting in the acquisition of a company developing an ASO therapy, demonstrates the success of their approach.

Conclusion

Patient groups like FAST are reshaping drug development in rare diseases by becoming central partners and driving progress. The four P’s of drug development – prevalence, progress, pathways, and partnerships – play a crucial role in determining the success and impact of these efforts. By adopting innovative models and collaborating with industry, patient groups can make significant strides in addressing the unmet needs of rare disease communities.